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1.
A 59-year-old woman had an unusual association of unilateral retinitis pigmentosa and optic pit with macular pathologic features in the same eye. A general ophthalmic and electrophysiologic investigation characterized the patient's condition functionally, without defining the basic defect responsible for this peculiar association. While an exact explanation of this occurrence cannot be given at this time, the possibility of coincidence or abiotrophy with developmental defects can be suggested as its intimate mechanism.  相似文献   

2.
BACKGROUND: The purpose of this study was to quantify blood-ocular barrier impairment by measuring aqueous flare in retinitis pigmentosa (RP) and to search for clinical correlations. METHODS: Forty-nine patients (94 eyes) with RP and 85 normal controls were examined. Aqueous flare was quantified with the noninvasive laser flare-cell meter (FC-1000, Kowa, Japan). Degrees of cystoid macular edema (CME), vitreous pigment dusting (VPD), intraretinal migration of retinal pigment epithelium, and waxy pallor of the optic nerve head were determined semiquantitatively by biomicroscopy. Data were analyzed using the t-test the Mann-Whitney U-test, the chi-squared test and regression analysis by taking into account the dependency of data from two eyes of the same patients. RESULTS: Aqueous flare (photon counts/ms) was significantly higher in RP (mean 10.11 +/- 3.53) than in normals (3.89 +/- 0.94; P < 0.001). Clinically significant CME was present in 26% of eyes with RP, being significantly more frequent in autosomal dominant RP (11 of 16 eyes, 69%) than in other variants (17%; P < 0.005). Multivariate analysis revealed that CME was most strongly associated with flare values (r = 0.84), P < 0.01), whereas--after adjusting for CME--correlations between aqueous flare and other clinical findings did not reach significance. CONCLUSION: RP eyes show increased aqueous flare values, indicating impairment of blood-occur barriers. This appears to be associated with CME and with autosomal dominant RP.  相似文献   

3.
Lipid studies in retinitis pigmentosa   总被引:1,自引:0,他引:1  
Magnetic resonance images (MRI) of brachial plexus anatomy bilaterally, not possible by plain radiographs or CT, were presented to the Vascular Surgery, Neurology, and the Neurosurgery departments. Patients were requested for MRI of their brachial plexus. They were referred for imaging and the imaging results were presented to the faculty and housestaff. Our technique was accepted and adopted to begin referrals for MRI evaluation of brachial plexopathy. Over 175 patients have been studied. Eighty-five patients were imaged with the 1.5 Tesla magnet (Signa; General Electric Medical Systems, Milwaukee, WI) 3-D reconstruction MRI. Coronal, transverse (axial), oblique transverse, and sagittal plane T1-weighted and selected T2-weighted pulse sequences were obtained at 4-5 mm slice thickness, 40-45 full field of view, and a 512 x 256 size matrix. Saline water bags were used to enhance the signal between the neck and the thorax. Sites of brachial plexus compromise were demonstrated. Our technique with 3-D reconstruction increased the definition of brachial plexus pathology. The increased anatomical definition enabled the vascular surgeons and neurosurgeons to improve patient care. Brachial plexus in vivo anatomy as displayed by MRI, magnetic resonance angiography (MRA), and 3-D reconstruction offered an opportunity to augment the teaching of clinical anatomy to medical students and health professionals. Selected case presentations (bodybuilder, anomalous muscle, fractured clavicle, thyroid goiter, silicone breast implant rupture, and cervical rib) demonstrated compromise of the brachial plexus displayed by MRI. The MRI and 3-D reconstruction techniques, demonstrating the bilateral landmark anatomy, increased the definition of the clinical anatomy and resulted in greater knowledge of patient care management.  相似文献   

4.
A total of 110 patients with retinitis pigmentosa were prospectively and consecutively evaluated for the presence of foveal lesions. Of these 69 (63 percent) patients showed one of two types of separate and distinct bilateral foveal lesions. Forty-seven (43 percent) patients had atrophic-appearing lesions of the retinal pigment epithelium within the fovea of both eyes, and an additional 22 (20 percent) patients showed bitalteral foveal cysts or partial-thickness holes. Of the 22 patients in this last group, 16 showed cystoid macular edema evident on fluorescein angiography.  相似文献   

5.
Surgical operation on 30 kidneys was carried out for branched renal calculi, with no operative mortality. Of 23 kidneys in which conservative surgical procedures were used, 83 percent are now stone-free. When all stones were successfully removed, cultures of urine were sterile in 80 percent of cases, but when fragments remained, no patient was infection-free. It was found that impaired renal function need not be a contraindication to surgical operation, and indeed that in five of seven patients with impaired renal function, serum creatinine levels either remained stable or improved. We believe that surgical removal is the most conservative management of branched renal calculi.  相似文献   

6.
Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. So far, 41 single-base-pair (bp) substitutions, one two-bp substitution, and four deletions ranging from 3 to 42 bp have been identified in this gene. These mutations do not appear to be significantly clustered in a specific part of the protein, but occur in all three major domains, namely the intradiscal, transmembrane, and cytoplasmic regions. Different mutations appear to cause differences in the severity of the disease, though there is considerable variability in severity even within the same family, at least in certain of these mutations. Identification of all the mutations involved in rhodopsin-RP should allow accurate and early detection of affected individuals, informed genetic counselling, as well as furthering our knowledge of the disease process involved.  相似文献   

7.
Inherited retinal degenerations cause severe visual handicaps or blindness later in life. In typical rod cone dystrophy (retinitis pigmentosa) there is relevant visual loss in the third decade with implications for the patients' professional life, their mobility and their private life. For this reason, the disease is relevant for the individual patient as well as for society in general. We investigated social issues in 233 retinitis pigmentosa patients: 9.9% are not able to read any more; 40.9% have never had a driver's license and 27.8% quit driving because of a visual handicap. The mean reduction in the capacity for work is 86%; 12.7% are unable to work and therefore receive public financial support; 22.6% are unable to work in their profession; 20.9% are receiving public support because of legal blindness. Against this background it seems to be important that ophthalmologists inform their patients thoroughly about the implications of the disease for their professional and private lives. Doing this, he/she should ask for support from social service professionals.  相似文献   

8.
The term, 'retinitis pigmentosa', refers to a heterogeneous group of inherited diseases that cause degeneration of rod and cone photoreceptors in the human retina. Loss of photoreceptor cells is usually followed by alterations in the retinal pigment epithelium and retinal glia. Ultimately, degenerative changes occur in the inner retinal neurons, blood vessels, and optic nerve head. This chapter provides background information on the genetics of retinitis pigmentosa and a summary of the histopathologic alterations in human retinas caused by this disease. Detailed information is provided on the effects of the primary disease process on the rod photoreceptors and changes in the other retinal components, all of which are important considerations for understanding and developing therapies for retinitis pigmentosa.  相似文献   

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11.
The aim of this study was to assess the effect of menopause on circadian profile of blood pressure (BP) and heart rate (HR) in the normotensive pre- and postmenopausal women. Systolic BP (SBP), diagnostic BP (DBP) and HR were monitored every 30 min for 48 hrs using noninvasive ambulatory BP monitoring in 24 premenopausal and 40 postmenopausal women. Mean 48-hours, daytime (awake), and nighttime (sleeping) SBP, DBP and HR values were analyzed by reviewing the patients' diaries, and the nocturnal reduction rate (NRR) of SBP, DBP and HR were calculated according to the following formula. NRR (%9 = [(daytime mean-nighttime mean)/daytime mean] x 100. The study subjects were then divided into two groups according to the presence (dipper) or absence (nondipper) of a significant reduction in nocturnal BP (> 10%). Mean SBP, DBP and HR measured over 48 hours were similar between the premenopausal and the postmenopausal group. The NRR of DBP and HR in the postmenopausal group were significantly smaller than those in the premenopausal group (17.1 +/- 6.0% vs. 13.5 +/- 7.0%, 241.1 +/- 6.0% vs. 19.8 +/- 9.0%: p < 0.05). There tended to be higher prevalence of nondipper in the postmenopausal (37%) than in the premenopausal group (29%).  相似文献   

12.
OBJECTIVE: The purpose of the study was to determine whether distinct patterns of visual field progression are present in patients with retinitis pigmentosa (RP) and to evaluate the correlation between these patterns, if present, and different genetic subtypes of RP. DESIGN: A retrospective analysis of patterns of visual field progression in RP was performed. PARTICIPANTS: Visual fields of 162 patients with RP, including 55 with type 2 Usher syndrome, who had at least 3 Goldmann visual field examinations during a period of at least 3 years were reviewed. MAIN OUTCOME MEASURES: Goldmann visual fields. RESULTS: Visual fields of 86 patients could be classified into one of three specific patterns of visual field progression. Pattern I included those patients with a progressive concentric loss of visual fields; pattern II included those with visual field loss that began superiorly and subsequently developed an arcuate scotoma that progressed either from the nasal (IIA) or the temporal (IIB and IIC) side; and pattern III included patients whose visual field loss was characterized initially by a complete or incomplete midperipheral "ring scotoma" that broke through into the periphery. The end stage of all these patterns was a residual central visual field, sometimes also associated with a small peripheral island. In 53 of the 162 patients, the pattern of visual field loss could not be categorized because of an advanced stage of field loss at the time of the initial examination. CONCLUSIONS: Distinctive patterns of visual field progression can be observed in patients with retinitis pigmentosa and type 2 Usher syndrome. There were no intrafamilial variations in the pattern of visual field loss in our data on 24 patients from 11 families. Within certain genetic subtypes, there was a predilection for a preponderance of a specific pattern of visual field progression. Future studies may be able to correlate these patterns of visual field loss with different genetic mutations. A greater understanding as to why certain patterns of field loss exist could potentially provide greater insight into the various pathogenetic mechanism(s) by which photoreceptor cells degenerate in this group of patients.  相似文献   

13.
OBJECTIVE: To establish the technical feasibility and safety of photoreceptor transplantation in retinitis pigmentosa. METHODS: A sheet of human photoreceptor cells was harvested from 2 human cadaveric eyes with a vibratome and transplanted into the subretinal spaces of 2 patients with advanced retinitis pigmentosa and visual acuity of no light perception by means of submacular surgery techniques. Preoperative and postoperative electrophysiologic testing, fundus photography, fluorescein angiography, and scanning laser ophthalmoscopy were performed. RESULTS: Twelve months after photoreceptor transplantation, the visual acuity of each patient remained no light perception. The temporal edge of the retinotomy in 1 patient was folded but was not associated with a retinal detachment. The patients were not immunosuppressed, and there was no evidence of rejection of the allogeneic transplant. Cystoid macular edema, uveitis, and macular pucker were not observed. CONCLUSION: A sheet of adult human photoreceptor cells can be harvested from human cadaveric eyes and safely transplanted to the subretinal spaces of patients with retinitis pigmentosa without systemic immunosuppression.  相似文献   

14.
PURPOSE: To determine the origin of the tapetal-like reflex (TLR) in carriers of X-linked retinitis pigmentosa. METHODS: Spectral fundus reflectance of carriers of X-linked retinitis pigmentosa was measured and compared with that of normal subjects. The influence of visual pigment was determined by measuring the density difference, that is, the difference between the logarithmically scaled spectra of a bleached and a dark-adapted retina. In addition, fundus reflectance maps at 514 nm were made with a scanning laser ophthalmoscope in a bleached and a dark-adapted condition. Finally, the optical Stiles-Crawford effect was measured to determine the angular sensitivity of the TLR. RESULTS: The tapetal-like reflex showed its spectral fingerprint in a high reflectance for wave-lengths smaller than 600 nm. The density difference measured at retinal sites of TLR was significantly larger than in normals, but the shape of the spectrum was similar. The optical Stiles-Crawford effect showed a similar peakedness for all retinal positions. However, in the TLR region, the amplitude of the directionally dependent part was increased dramatically. For the foveal region, no differences were observed. CONCLUSIONS: An increase in reflectance of the outer segments of the photoreceptors in heterozygotes compared to normals can explain both the high-density difference and the large amplitude of the Stiles-Crawford effect. An earlier suggestion that only cones contribute to the TLR is unlikely.  相似文献   

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The authors present a biomicroscopic evaluation of vitreal alterations in a large group of patients affected by primary retinitis pigmentosa (RP). 286 RP patients (571 eyes), 153 (305 eyes) males and 133 (266 eyes) females, have been studied; the mean age of this whole group was 37.26 + or - 14.93 years (age range: 5-77). Vitreal static and dynamic biomicroscopy was performed on fully dilated pupils by means of a Haag-Streit 900 slit-lamp and high-power positive precorneal lenses (+90 and +78 dpt Volk lenses). Most patients showed floating cottonball-like condensations (26.824%) often associated with fibrillary degeneration (15.88%), while non-pigmentary vitreal particulation was detected in 26.609% of cases and the pigmentary type in 12.017%, respectively. Posterior vitreal detachment was detected alone in only 0.43% of cases while 18.24% of examined eyes showed no vitreal alterations. A high statistical correlation between vitreal aspects and pigmentary grading of the fundus oculi (p = 0.0001), as well as duration of the disease (p = 0.0074), was found; at the same time, no statistical correlation with refractive error was demonstrated (p = 0.47).  相似文献   

17.
PURPOSE: To determine whether retinitis pigmentosa (RP) increases the mental effort required for walking. METHODS: A dual-task methodology was used; walking speed and reaction time (RT) to randomly emitted tones were measured in 13 persons with RP and 29 persons with normal vision. Measures of RT were used to estimate the mental effort required for walking. In a second experiment, 15 persons with RP and 17 persons with normal vision navigated a "simple" and a "complex" route. RESULTS: The RP subjects had longer RT compared with the normal-vision subjects when walking the complex but not the simple route. Normalized to each person's baseline, RT while walking the complex route was significantly correlated with log contrast sensitivity (r = -0.63) and log retinal area (r = -0.64) in the RP group. The amount of mental effort required for walking was shown to also depend on familiarity with the route. CONCLUSIONS: Route complexity is critical in determining whether walking requires more mental effort for persons with RP than for persons with normal vision. The magnitude of mental effort required for mobility covaries with the visual impairment measures which correlate with mobility performance in RP.  相似文献   

18.
PURPOSE: To study the incidence and types of cataract in retinitis pigmentosa (RP) and their variations among different forms of RP. PATIENTS AND METHODS: This analysis was based on data from 473 patients with RP (autosomal dominant, n = 87; autosomal recessive, n = 79; x chromosomal recessive, n = 23; simplex RP, n = 215; Usher's syndrome n = 80; M. Refsum and others, n = 9) that were retrieved from the literature and patient charts in our clinic. RESULTS: Posterior subcapsular cataract (PSC) developed with the following frequencies for the different genetic types of RP: autosomal dominant, 45.3%; autosomal recessive, 44.0%; x chromosomal recessive, 40.7%; simplex RP, 46.1%; Usher's syndrome, 52.9%. PSC was the only type of lens opacity in patients with Usher's syndrome and autosomal recessive RP.PSC development correlated with early onset of RP symptoms. Nuclear cataracts showed a statistically significant higher frequency in patients with simplex RP (14.8%) than in other genetic types (0-5.9%) (P < 0.01). In addition, nuclear cataracts developed in simplex RP at a significantly later age (69.6 +/- 12.4 years) than PSC (44.4 +/- 12.3 years) (P < 0.001). Patients with cataracts showed significantly worse visual fields than patients with clear lenses (P = 0.00067). CONCLUSIONS: The typical RP cataract (PSC) was found in similar frequencies among all genetic types of RP.PSC was the only type of lens opacity in patients with Usher's syndrome and autosomal recessive RP. Nuclear cataracts developed on average 20 years later than PSC and had their highest incidence in patients with simplex RP. Patients with cataracts showed significantly worse visual field results, indicating a more pronounced retinal pathology.  相似文献   

19.
In budding yeast, a protein kinase called Gin4 is specifically activated during mitosis and functions in a pathway initiated by the Clb2 cyclin to control bud growth. We have used genetics and biochemistry to identify additional proteins that function with Gin4 in this pathway, and both of these approaches have identified members of the septin family. Loss of septin function produces a phenotype that is very similar to the phenotype caused by loss of Gin4 function, and the septins are required early in mitosis to activate Gin4 kinase activity. Furthermore, septin mutants display a prolonged mitotic delay at the short spindle stage, consistent with a role for the septins in the control of mitotic events. Members of the septin family bind directly to Gin4, demonstrating that the functions of Gin4 and the septins must be closely linked within the cell. These results demonstrate that the septins in budding yeast play an integral role in the mitosis-specific regulation of the Gin4 kinase and that they carry out functions early in mitosis.  相似文献   

20.
INTRODUCTION: Clinically relevant autonomic disturbances have been reported for respirator-dependent ALS patients while subclinical involvement may be present in the early course. METHODS: Eighteen patients with early-stage ALS and 18 age-matched controls were studied by means of standard autonomic tests (heart off + response to deep breathing and tilt-table testing), and spectral analysis of heart rate (HR) and arterial blood pressure (ABP), using the associated transfer function as a measure of baroreflex sensitivity for the mid-frequency band (MF band, 0.05-0.15 Hz) and as a measure of cardiorespiratory transfer for the high-frequency band (HF band, 0.15-0.33 Hz). RESULTS: Mean HR and ABP were increased in ALS, while results of standard autonomic tests were similar for ALS and controls. Transfer function analysis revealed reduced baroreflex sensitivity and diminished cardiorespiratory transfer during normal breathing. CONCLUSIONS: Cardiovascular autonomic functions are intact in patients with ALS. There is evidence of sympathetic enhancement and vagal withdrawal, accompanied by reduced baroreflex sensitivity. These findings are similar to those reported for essential hypertension and may point to a common central autonomic derangement in both disorders.  相似文献   

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